Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03098:Scd4'

453002

Institutional Source

Beutler Lab

Gene Symbol

Scd4

Ensembl Gene

ENSMUSG00000050195

Gene Name

stearoyl-coenzyme A desaturase 4

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

IGL03098 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44321765-44335182 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 44321931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000059860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058856]

AlphaFold

Q6T707

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058856
AA Change: M1L

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059860
Gene: ENSMUSG00000050195
AA Change: M1L

Domain	Start	End	E-Value	Type
transmembrane domain	65	87	N/A	INTRINSIC
Pfam:FA_desaturase	91	311	7e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133314

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

92% (44/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Abca15	T	C	7: 119,987,499 (GRCm39)		probably null	Het
Adcy4	T	C	14: 56,019,038 (GRCm39)	Q173R	probably null	Het
Arhgef19	A	G	4: 140,974,879 (GRCm39)	D113G	possibly damaging	Het
Btbd6	A	G	12: 112,942,038 (GRCm39)	E501G	probably damaging	Het
Btnl2	T	C	17: 34,584,190 (GRCm39)	V371A	probably benign	Het
Cd84	G	T	1: 171,700,267 (GRCm39)	R128L	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Dsg3	A	T	18: 20,643,422 (GRCm39)		probably benign	Het
Efnb2	A	T	8: 8,713,420 (GRCm39)		probably benign	Het
Fam24b	T	C	7: 130,927,977 (GRCm39)	S71G	probably benign	Het
Flacc1	G	T	1: 58,730,908 (GRCm39)	H49Q	probably benign	Het
Hgd	G	A	16: 37,436,607 (GRCm39)	C180Y	probably benign	Het
Hjurp	TGGG	TTGCGGG	1: 88,194,002 (GRCm39)		probably benign	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Kcmf1	A	T	6: 72,826,567 (GRCm39)	M1K	probably null	Het
Letm2	T	A	8: 26,071,745 (GRCm39)	T386S	possibly damaging	Het
Lvrn	A	T	18: 47,014,477 (GRCm39)		probably null	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nid2	G	A	14: 19,856,006 (GRCm39)	D1244N	probably damaging	Het
Nvl	G	T	1: 180,921,471 (GRCm39)	Q843K	probably benign	Het
Obi1	T	C	14: 104,716,253 (GRCm39)	I707V	possibly damaging	Het
Or1e30	T	G	11: 73,678,529 (GRCm39)	I255S	probably benign	Het
Pi4ka	A	T	16: 17,143,891 (GRCm39)	I726N	probably damaging	Het
Rab25	A	T	3: 88,449,567 (GRCm39)	C209S	probably damaging	Het
Rgs6	A	T	12: 83,032,150 (GRCm39)	I21F	probably damaging	Het
Rnf10	T	C	5: 115,410,426 (GRCm39)	D16G	probably damaging	Het
Rnmt	G	A	18: 68,439,073 (GRCm39)	V61M	probably damaging	Het
Rrs1	GCTC	GC	1: 9,616,328 (GRCm39)		probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Sptb	A	G	12: 76,668,273 (GRCm39)	I608T	probably damaging	Het
Sstr5	A	G	17: 25,710,251 (GRCm39)	V326A	probably benign	Het
Sugct	T	C	13: 17,846,321 (GRCm39)	D62G	probably damaging	Het
Thada	C	G	17: 84,641,569 (GRCm39)	D1306H	possibly damaging	Het
Thap1	C	G	8: 26,652,498 (GRCm39)	P79A	probably benign	Het
Tra2a	G	A	6: 49,225,969 (GRCm39)	S157L	probably damaging	Het
Trappc10	C	T	10: 78,050,520 (GRCm39)	R307Q	probably damaging	Het
Trim9	A	G	12: 70,327,467 (GRCm39)	I390T	possibly damaging	Het
Usp24	T	C	4: 106,228,230 (GRCm39)	V765A	probably benign	Het
Wdr90	C	A	17: 26,078,961 (GRCm39)		probably benign	Het
Ybey	A	T	10: 76,304,078 (GRCm39)	C41*	probably null	Het

Other mutations in Scd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Scd4	APN	19	44,333,186 (GRCm39)	missense	possibly damaging	0.54
IGL02824:Scd4	APN	19	44,329,698 (GRCm39)	missense	probably damaging	1.00
crisco	UTSW	19	44,327,510 (GRCm39)	missense	probably benign	0.24
R0576:Scd4	UTSW	19	44,329,685 (GRCm39)	missense	probably benign	0.00
R0655:Scd4	UTSW	19	44,327,407 (GRCm39)	missense	possibly damaging	0.52
R1792:Scd4	UTSW	19	44,326,013 (GRCm39)	nonsense	probably null
R1925:Scd4	UTSW	19	44,329,823 (GRCm39)	missense	probably damaging	0.99
R1995:Scd4	UTSW	19	44,322,617 (GRCm39)	missense	possibly damaging	0.93
R5018:Scd4	UTSW	19	44,326,048 (GRCm39)	missense	probably benign	0.09
R5815:Scd4	UTSW	19	44,326,003 (GRCm39)	missense	probably damaging	1.00
R6036:Scd4	UTSW	19	44,333,231 (GRCm39)	missense	probably damaging	0.98
R6036:Scd4	UTSW	19	44,333,231 (GRCm39)	missense	probably damaging	0.98
R6264:Scd4	UTSW	19	44,327,398 (GRCm39)	nonsense	probably null
R6946:Scd4	UTSW	19	44,321,953 (GRCm39)	missense	probably null	0.82
R7661:Scd4	UTSW	19	44,327,510 (GRCm39)	missense	probably benign	0.24
R7957:Scd4	UTSW	19	44,329,687 (GRCm39)	missense	probably benign	0.00
R8112:Scd4	UTSW	19	44,325,945 (GRCm39)	missense	probably benign	0.00
R8226:Scd4	UTSW	19	44,322,572 (GRCm39)	missense	probably benign	0.00
R9752:Scd4	UTSW	19	44,322,475 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCTGTGCCTGGAAACAAC -3'
(R):5'- TGGACGGGAGCTTTCTTTCC -3'

Sequencing Primer
(F):5'- TGTGCCTGGAAACAACAACAC -3'
(R):5'- ACGGGAGCTTTCTTTCCTTTAAAG -3'

Posted On

2017-01-24